A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011]
人 EFEMP2 (NM_016938) cDNA克隆
| Accession: | NM_016938 |
|---|---|
| 基因名称: | EFEMP2 |
| 基因别名: | MBP1; UPH1; FBLN4; ARCL1B |
| 基因描述: | Homo sapiens EGF containing fibulin-like extracellular matrix protein 2 (EFEMP2), transcript variant 1, mRNA. |
| 种属: | Human |
| CDS区长度: | 1332 (查看编码区序列) |
| 翻译后氨基酸长度: | 443 (查看氨基酸序列) |
| Transcript Variant: | This variant (1) represents the longer transcript and encodes the functional protein. |
| 人 EFEMP2 (NM_016938) cDNA克隆 | transcript variant 1 |
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